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Entry Name Description Category Pathway Gene
H01123 HMG-CoA synthase deficiency ... recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 ... Inherited metabolic disorder, Mitochondrial disease HMGCS2 [HSA:3158] [KO:K01641]
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